A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231945



Internal ID22372372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35628143..35680416hg38UCSC Ensembl
Outerchr22:36024190..36076463hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3823767
hg1923767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269172
SamplesHG00514
Known GenesAPOL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231945
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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